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PMO Precision Medicine Ontology
Last uploaded:
December 16, 2020
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| Preferred Name | Maple Syrup Urine Disease | |
| Synonyms |
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| Definitions |
An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00038500 |
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| Database_Cross_Reference |
DO:DOID:9269
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| Definition |
An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures.
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| label |
Maple Syrup Urine Disease
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| MCID |
MC01395087
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| PMOID |
PMO:00038500
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| prefixIRI |
pmo:PMO_00038500
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| prefLabel |
Maple Syrup Urine Disease
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| Synonym |
Ketoacidaemia maple syrup urine disease branched chain ketoaciduria
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| Tree Number |
T9.21.15.5.17.2.1 T9.11.1.12.6.1 T9.11.1.6.2.1 T9.8.4.14.8.1 T9.11.1.12.8.1 T9.8.4.14.6.1
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| subClassOf |
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